Multiomics, Biomarkers & Mass Spectrometry

Define personalised medicine.

A medical model using molecular profiling to tailor the right therapeutic strategy to the right person at the right time.

 Define precision medicine.

An approach that accounts for individual variability in genes, environment, and lifestyle to guide treatment and prevention.

 What is multiomics?

Integration of multiple omics datasets (genomics, transcriptomics, proteomics, metabolomics) to understand biological systems holistically.

Why is multiomics superior to single‑omics approaches?

Diseases involve multi‑layered molecular changes; integrating layers improves biomarker accuracy and mechanistic insight.

 95-98% of the human genome is non-coding. What does non‑coding DNA do?

Regulates gene expression, chromatin structure, and genome stability.

What technology underpins modern genomics?

High‑throughput sequencing

Why is genomics important in drug response?

Genetic variants influence drug metabolism, toxicity, and therapeutic sensitivity.

How is transcriptomics used clinically?

 Identifying gene expression signatures for prognosis and treatment stratification.

What is proteomics?

Large‑scale study of proteins, their structures, functions, and modifications.

Why can’t genomics alone predict protein function?

Proteins undergo post‑translational modifications (PTMs) and alternative splicing.

Name three PTMs and their roles.

• Phosphorylation → signalling

• Glycosylation → cell recognition

• Acetylation → chromatin regulation

What is electrospray ionisation (ESI)?

 A soft ionisation method producing intact ions, ideal for peptides and lipids.

What is MALDI‑TOF used for?

Analysing large biomolecules using laser desorption and time‑of‑flight separation.

Why is LC‑MS/MS powerful?

It separates complex mixtures and identifies proteins via peptide fragmentation.

What is metabolomics?

 Study of all small‑molecule metabolites in a biological system.

Why is metabolomics closest to phenotype?

Metabolites reflect real‑time biochemical activity and respond rapidly to physiological changes.

Why is metabolomics challenging?

he metabolome is chemically diverse, dynamic, and spans a huge concentration range.

definition of a biomarker?

A characteristic objectively measured as an indicator of biological or pharmacological processes.

 biobanking essential for biomarker discovery?

 It provides large, stratified, well‑annotated sample collections needed for validation and reproducibility